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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 4-184795078-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=184795078&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 184795078,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000281455.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACSL1",
"gene_hgnc_id": 3569,
"hgvs_c": "c.196-6347A>G",
"hgvs_p": null,
"transcript": "NM_001995.5",
"protein_id": "NP_001986.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 698,
"cds_start": -4,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3712,
"mane_select": "ENST00000281455.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACSL1",
"gene_hgnc_id": 3569,
"hgvs_c": "c.196-6347A>G",
"hgvs_p": null,
"transcript": "ENST00000281455.7",
"protein_id": "ENSP00000281455.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 698,
"cds_start": -4,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3712,
"mane_select": "NM_001995.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACSL1",
"gene_hgnc_id": 3569,
"hgvs_c": "c.196-6347A>G",
"hgvs_p": null,
"transcript": "ENST00000504342.5",
"protein_id": "ENSP00000425006.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 698,
"cds_start": -4,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACSL1",
"gene_hgnc_id": 3569,
"hgvs_c": "c.196-6347A>G",
"hgvs_p": null,
"transcript": "ENST00000505492.2",
"protein_id": "ENSP00000425640.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 672,
"cds_start": -4,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACSL1",
"gene_hgnc_id": 3569,
"hgvs_c": "c.196-6347A>G",
"hgvs_p": null,
"transcript": "NM_001286708.2",
"protein_id": "NP_001273637.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 698,
"cds_start": -4,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACSL1",
"gene_hgnc_id": 3569,
"hgvs_c": "c.196-6347A>G",
"hgvs_p": null,
"transcript": "NM_001286710.2",
"protein_id": "NP_001273639.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 698,
"cds_start": -4,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ACSL1",
"gene_hgnc_id": 3569,
"hgvs_c": "c.196-6347A>G",
"hgvs_p": null,
"transcript": "NM_001381877.1",
"protein_id": "NP_001368806.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 698,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ACSL1",
"gene_hgnc_id": 3569,
"hgvs_c": "c.196-6347A>G",
"hgvs_p": null,
"transcript": "NM_001381878.1",
"protein_id": "NP_001368807.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 698,
"cds_start": -4,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ACSL1",
"gene_hgnc_id": 3569,
"hgvs_c": "c.196-6347A>G",
"hgvs_p": null,
"transcript": "NM_001381879.1",
"protein_id": "NP_001368808.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 698,
"cds_start": -4,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3851,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACSL1",
"gene_hgnc_id": 3569,
"hgvs_c": "c.196-6347A>G",
"hgvs_p": null,
"transcript": "NM_001381880.1",
"protein_id": "NP_001368809.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 2,
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"gene_symbol": "ACSL1",
"gene_hgnc_id": 3569,
"hgvs_c": "c.196-6347A>G",
"hgvs_p": null,
"transcript": "NM_001381881.1",
"protein_id": "NP_001368810.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "ACSL1",
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"transcript": "NM_001381882.1",
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},
{
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],
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"gene_symbol": "ACSL1",
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"hgvs_c": "c.196-6347A>G",
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"transcript": "NM_001381883.1",
"protein_id": "NP_001368812.1",
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},
{
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],
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"gene_symbol": "ACSL1",
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"transcript": "NM_001381884.1",
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},
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],
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},
{
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],
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"gene_symbol": "ACSL1",
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],
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"gene_symbol": "ACSL1",
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"transcript": "NM_001381887.1",
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},
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],
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"gene_symbol": "ACSL1",
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"hgvs_c": "c.196-6347A>G",
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"transcript": "ENST00000513317.5",
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],
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},
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"strand": false,
"consequences": [
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],
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"gene_symbol": "ACSL1",
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"hgvs_c": "c.196-6347A>G",
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},
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"consequences": [
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],
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"intron_rank": 3,
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"gene_symbol": "ACSL1",
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